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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUCA1

Variant:p.L17P

FUCA1

142 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), ...

Pfam Domains

Alpha_L_fucosaa 24–367UCSCAlpha-L-fucosidase

Fucosidase_Caa 378–463UCSCAlpha-L-fucosidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-fucosidase 1

HGNC Previous Name

fucosidase, alpha-L- 1, tissue

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:23868237 A>G

NM_000147.5

p.L17P

c.50T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a77 overlapping SVs

Surrounding Variants

1 paper

chr1:23868229 GCAGCAGCAGCAAC>G

NM_000147.5

p.L15_L19delFs

c.45_57del13

exact variant not in gnomAD77 overlapping SVs

1 paper

chr1:23868223 G>A

NM_000147.5

p.L22F

c.64C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a77 overlapping SVs

7 papers

chr1:23868258 G>C

NM_000147.5

p.P10R

c.29C>G

Exome: 10.1% (AC=141225, hom=7578)Genome: 10.7% (AC=16316, hom=964)77 overlapping SVs

1 paper

chr1:23868205 CAC>N

NM_000147.5

p.V28fs

c.82_83fs

Alpha_L_fucos

exact variant not in gnomAD77 overlapping SVs

2 papers

chr1:23868204 AC>A

NM_000147.5

p.V28delFs

c.82delC

Alpha_L_fucos

exact variant not in gnomAD77 overlapping SVs

1 paper

chr1:23868272 C>G

NM_000147.5

p.G5G

c.15G>C

Exome: 0.0% (AC=8, hom=0)Genome: n/a77 overlapping SVs

1 paper

chr1:23868274 C>T

NM_000147.5

p.G5R

c.13G>A

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)77 overlapping SVs

1 paper

chr1:23868280 C>G

NM_000147.5

p.A3P

c.7G>C

Exome: 1.0% (AC=13485, hom=119)Genome: 0.9% (AC=1435, hom=21)77 overlapping SVs

7 papers

chr1:23868283 G>A

NM_000147.5

p.R2W

c.4C>T

Exome: 10.1% (AC=140562, hom=7561)Genome: 10.7% (AC=16305, hom=962)77 overlapping SVs

1 paper

chr1:23868285 A>T

NM_000147.5

p.M1K

c.2T>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)77 overlapping SVs

1 paper

chr1:23868286 T>C

NM_000147.5

p.M1V

c.1A>G

Exome: 0.0% (AC=123, hom=0)Genome: 0.0% (AC=11, hom=0)77 overlapping SVs

1 paper

chr1:23868181 G>A

NM_000147.5

p.R36C

c.106C>T

Alpha_L_fucos

Exome: 0.0% (AC=292, hom=0)Genome: 0.0% (AC=16, hom=0)77 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."